Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001221388 | SCV001393429 | uncertain significance | Spastic paraplegia | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with histidine at codon 159 of the SACS protein (p.Tyr159His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SACS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV003294062 | SCV003976566 | uncertain significance | Inborn genetic diseases | 2023-04-20 | criteria provided, single submitter | clinical testing | The c.475T>C (p.Y159H) alteration is located in exon 7 (coding exon 6) of the SACS gene. This alteration results from a T to C substitution at nucleotide position 475, causing the tyrosine (Y) at amino acid position 159 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001836169 | SCV002086755 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-02-13 | no assertion criteria provided | clinical testing |